Familial scaphocephaly syndrome McGillivray type

disorder

SNOMED 725030006CUI C4510730

Overview

Familial scaphocephaly syndrome McGillivray type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

High forehead

Very frequent (80-99%)HP:0000348

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large head

Very frequent (80-99%)HP:0000256

Flat midface

Frequent (30-79%)HP:0011800

High arched palate

Frequent (30-79%)HP:0000218

Mental retardation, mild

Frequent (30-79%)HP:0001256

Narrow head shape

Frequent (30-79%)HP:0000268

Open bite

Frequent (30-79%)HP:0010807

Broad bone of big toe

Occasional (5-29%)HP:0010059

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Mandibular excess

Occasional (5-29%)HP:0000303

Mongoloid slant

Occasional (5-29%)HP:0000582

Syndactyly of feet

Occasional (5-29%)HP:0001770

Trigonocephaly

Occasional (5-29%)HP:0000243

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Interparietal craniosynostosis(parent)

Congenital abnormality of skull shape(parent)

Developmental hereditary disorder(parent)

Congenital anomaly of bone and joint(parent)

Quick Facts

SNOMED CT: 725030006
UMLS CUI: C4510730
Fully Specified Name: Familial scaphocephaly syndrome McGillivray type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.